Hypochondroplasia is a genetic disorder that affects bone growth and development. It is characterized by short stature, particularly in the limbs, and a relatively normal-sized head and trunk. This condition is caused by mutations in the FGFR3 gene, which plays a role in regulating bone growth.
Individuals with hypochondroplasia typically have short arms and legs, a broad and short stature, and a mildly shortened stature compared to average height. They may also have a prominent forehead, a flattened bridge of the nose, and joint stiffness. While intelligence is usually unaffected, some individuals may experience learning difficulties.
Hypochondroplasia is a form of dwarfism, but it is important to note that it is distinct from other types of dwarfism such as achondroplasia. It is typically diagnosed through physical examination, medical history, and genetic testing.
Treatment for hypochondroplasia focuses on managing the symptoms and complications associated with the condition. This may include physical therapy to improve joint mobility, orthopedic interventions to address skeletal abnormalities, and regular monitoring of growth and development.